Research from the University of Warwick has shown that most people are in favour for newborn screening of the potentially fatal condition spinal muscular atrophy (SMA).
Newborn baby
SMA is an inherited neuromuscular disorder with a wide spectrum of severities and is a leading genetic cause of infant death worldwide. However, there is no routine screening programme for SMA in the UK.
Last year a new therapy for SMA was licensed —Nusinersen, marketed as Spinraza — which has the potential to reduce the severity of the disease when given early in life, before the onset of SMA symptoms. Up until now, however, lack of treatments and the inability of screening tests to accurately predict disease severity have been among the key reasons that the implementation of a screening programme has faltered in the UK.
“With the recent release of the first therapy for SMA, calls are being made internationally for a reconsideration of the current stance on screening; however, very little is known about the views of the general public,” explained Dr Felicity Boardman of the University’s Warwick Medical School, who led the research. “We decided to address this gap in evidence by surveying people about their views.”
From the collaborative research (involving Boardman and Dr Philip Young at the University’s School of Life Sciences), it was found that 84% of the 232 people surveyed were in favour of newborn screening. Key reasons for support were a belief that it would lead to better healthcare and life expectancy for affected infants and facilitate informed decision-making for future pregnancies. Key reasons for non-support were a belief in the potential for significant negative impact on the family unit in terms of parent/child bonding and stress, particularly as the child’s prognosis may be difficult to predict at birth.
“Public acceptability is a key component in the evaluation of any potential screening programme in the UK,” specified Boardman. “This study demonstrates that newborn screening for SMA is viewed largely positively by people unfamiliar with the condition. The perceived importance of early identification overrode all other social and ethical concerns about screening for the majority of participants.”
Results from this survey were compared with earlier survey results from people living with SMA. This comparison demonstrated that a higher proportion of the general public (those with no experience of SMA) were in favour of screening, however, the proportion of those affected by SMA in favour was still 70%. Like the general public, the most common reason for not supporting screening amongst SMA-affected families was concern about the impact of the screen on the early experiences of the family.
Additionally, the researchers noted that for both the general public and SMA-affected families, levels of support for newborn screening were comparable to support for other screening methods, including preconception and prenatal screening. Indeed, for both populations, preconception screening (identifying SMA carriers before pregnancy) was considered the optimal screening approach.
The study, titled ‘Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population’, has been published in the journal Molecular Genetics & Genomic Medicine.